Posts Categorized: Part 20: IMMUNE AND DEFENSE SYSTEMS



HSCT transplantation in patients with CVID

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Wehr et al explored the outcomes of hematopoietic stem cell transplantation (HSCT) in patients with Common variable immunodeficiency (CVID). Based on retrospective data collected from 14 centers worldwide, 25 patients with CVID, who received HSCT between 1993 and 2012, were identified. These patients’ ages ranged from 8 to 50 years at the time of transplantation. […]



Creation of a fully intact and functional organ

Posted by & filed under Part 20: IMMUNE AND DEFENSE SYSTEMS, Treatment.

Bredenkamp et al. recently described how cellular reprogramming can be used to generate an entire organ for transplantation, using cells manipulated in the lab. The novelty of this study compared to past studies demonstrating the production of defined cell types in vitro, is that Bredenkamp et al. describe for the first time the creation of […]



New monogenic early-onset polyautoimmunity syndrome caused by activating mutations in STAT3

Posted by & filed under Exome sequencing, Part 20: IMMUNE AND DEFENSE SYSTEMS.

Flanagan SE et al. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.Nat Genet. 2014 Aug;46(8):812-4. Monogenic autoimmunity syndromes are a rare cause of very early-onset multiple autoimmune manifestations. Flanagan et al report a new monogenic early-onset polyautoimmunity syndrome caused by activating STAT3 mutations. They initially used exome sequencing to identify¬†an activating de novo […]



Immune deficiency in abetalipoproteinemia

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Abetalipoproteinemia, caused by mutations in the gene encoding microsomal triglyceride transfer protein, causes fat malabsorption, pigmentary degeneration of the retina, progressive ataxic neuropathy, and acanthocytosis. Many of the features are caused by secondary vitamin E deficiency. It has now been recognized that patients also have immune defects with altered presentation of self and microbial lipid […]



Mevalonate kinase deficiency

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Immune and inflammatory reactions are increasingly being linked to inborn errors of metabolism. It is well known that mevalonate kinase deficiency causes an auto-inflammatory syndrome. It has now been shown that the NALP3 inflammasome, which acts as an intracellular sensor for the innate immunity, is the missing link between a lack of geranylgeranyl pyrophosphate (downstream […]



Therapeutic gene causing lymphoma

Posted by & filed under Part 02: PERSPECTIVES, Part 20: IMMUNE AND DEFENSE SYSTEMS.

Nature. 2006 Apr 27;440(7088):1123. Gene therapy: therapeutic gene causing lymphoma. Woods NB, Bottero V, Schmidt M, von Kalle C, Verma IM. 3 children who underwent gene therapy for X-linked Severe Combined Immunodeficiency (X-SCID),using therapeutic administration of the IL2RG gene, developped T-cell leukaemia. In this article, the investigators conducted long term studies in a murine moodel […]